Incidental Mutation 'R9785:Armt1'
| ID |
734292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armt1
|
| Ensembl Gene |
ENSMUSG00000061759 |
| Gene Name |
acidic residue methyltransferase 1 |
| Synonyms |
1700052N19Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R9785 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
4382572-4405140 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4389606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 88
(W88R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095893]
[ENSMUST00000117489]
[ENSMUST00000118544]
[ENSMUST00000152294]
|
| AlphaFold |
A6H630 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095893
AA Change: W88R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093581
Gene: ENSMUSG00000061759
AA Change: W88R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF89
|
20 |
417 |
1.3e-125 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117489
AA Change: W88R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114025
Gene: ENSMUSG00000061759
AA Change: W88R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF89
|
20 |
136 |
7.2e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118544
AA Change: W88R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114073
Gene: ENSMUSG00000061759
AA Change: W88R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF89
|
20 |
187 |
1.2e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152294
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts14 |
T |
C |
10: 61,049,427 (GRCm39) |
E634G |
possibly damaging |
Het |
| Adgre1 |
T |
C |
17: 57,785,930 (GRCm39) |
L892P |
probably damaging |
Het |
| Adgrl1 |
A |
T |
8: 84,665,168 (GRCm39) |
N1285I |
probably damaging |
Het |
| Alpk1 |
A |
T |
3: 127,473,594 (GRCm39) |
M803K |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 29,824,300 (GRCm39) |
|
probably null |
Het |
| Cd27 |
G |
A |
6: 125,213,945 (GRCm39) |
|
probably benign |
Het |
| Cebpb |
A |
G |
2: 167,531,663 (GRCm39) |
D241G |
probably damaging |
Het |
| Clec3b |
T |
A |
9: 122,985,997 (GRCm39) |
W132R |
probably damaging |
Het |
| Cracd |
A |
T |
5: 77,015,028 (GRCm39) |
S1185C |
unknown |
Het |
| Csn2 |
A |
T |
5: 87,842,502 (GRCm39) |
V175D |
possibly damaging |
Het |
| Dnm1 |
A |
T |
2: 32,223,089 (GRCm39) |
C442S |
possibly damaging |
Het |
| Dstyk |
C |
T |
1: 132,381,038 (GRCm39) |
T511I |
probably damaging |
Het |
| Gabra5 |
C |
T |
7: 57,140,584 (GRCm39) |
V38I |
probably benign |
Het |
| Gjd2 |
A |
T |
2: 113,841,747 (GRCm39) |
Y243* |
probably null |
Het |
| Gtf2b |
AATCATC |
AATC |
3: 142,477,178 (GRCm39) |
|
probably benign |
Het |
| Hrnr |
G |
A |
3: 93,238,861 (GRCm39) |
R3033H |
unknown |
Het |
| Ivd |
G |
T |
2: 118,710,970 (GRCm39) |
R393L |
probably damaging |
Het |
| Jam2 |
T |
C |
16: 84,571,397 (GRCm39) |
L8P |
unknown |
Het |
| Klhdc7b |
G |
T |
15: 89,272,621 (GRCm39) |
D510Y |
probably damaging |
Het |
| Lgals8 |
A |
T |
13: 12,462,051 (GRCm39) |
F260I |
probably damaging |
Het |
| Lrrd1 |
T |
C |
5: 3,908,708 (GRCm39) |
I660T |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Npc1l1 |
C |
T |
11: 6,180,090 (GRCm39) |
A12T |
unknown |
Het |
| Or10j7 |
C |
T |
1: 173,011,458 (GRCm39) |
R181H |
probably benign |
Het |
| Or5d47 |
T |
C |
2: 87,804,245 (GRCm39) |
T255A |
possibly damaging |
Het |
| Rprm |
C |
T |
2: 53,975,238 (GRCm39) |
V27M |
probably benign |
Het |
| Scg3 |
G |
T |
9: 75,589,322 (GRCm39) |
D110E |
probably damaging |
Het |
| Selenon |
C |
T |
4: 134,270,374 (GRCm39) |
G326D |
probably damaging |
Het |
| Sh3gl2 |
T |
A |
4: 85,273,618 (GRCm39) |
Y57N |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,740,884 (GRCm39) |
L807M |
possibly damaging |
Het |
| Srl |
A |
G |
16: 4,314,718 (GRCm39) |
V308A |
probably benign |
Het |
| Tcf7 |
T |
A |
11: 52,173,773 (GRCm39) |
|
probably benign |
Het |
| Trdv2-2 |
A |
T |
14: 54,198,489 (GRCm39) |
T14S |
probably benign |
Het |
| Usf3 |
A |
G |
16: 44,041,970 (GRCm39) |
E2150G |
probably benign |
Het |
| Vmn2r104 |
G |
A |
17: 20,268,409 (GRCm39) |
T20I |
probably benign |
Het |
| Wnt1 |
G |
T |
15: 98,688,752 (GRCm39) |
V38L |
probably benign |
Het |
| Zbtb17 |
C |
T |
4: 141,194,271 (GRCm39) |
T740M |
possibly damaging |
Het |
| Zdhhc6 |
T |
C |
19: 55,300,203 (GRCm39) |
M125V |
probably damaging |
Het |
| Zfp202 |
A |
G |
9: 40,120,233 (GRCm39) |
M225V |
probably benign |
Het |
| Zfp592 |
G |
T |
7: 80,673,245 (GRCm39) |
V70F |
probably damaging |
Het |
|
| Other mutations in Armt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00907:Armt1
|
APN |
10 |
4,454,051 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL01018:Armt1
|
APN |
10 |
4,404,237 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01018:Armt1
|
APN |
10 |
4,400,732 (GRCm39) |
missense |
probably benign |
|
|
IGL02198:Armt1
|
APN |
10 |
4,404,064 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02980:Armt1
|
APN |
10 |
4,400,643 (GRCm39) |
splice site |
probably benign |
|
|
IGL03104:Armt1
|
APN |
10 |
4,389,615 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0620:Armt1
|
UTSW |
10 |
4,382,689 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4248:Armt1
|
UTSW |
10 |
4,389,687 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5709:Armt1
|
UTSW |
10 |
4,384,903 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6058:Armt1
|
UTSW |
10 |
4,403,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6318:Armt1
|
UTSW |
10 |
4,400,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6410:Armt1
|
UTSW |
10 |
4,403,826 (GRCm39) |
missense |
probably benign |
|
|
R6998:Armt1
|
UTSW |
10 |
4,403,937 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7242:Armt1
|
UTSW |
10 |
4,403,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7268:Armt1
|
UTSW |
10 |
4,400,855 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7432:Armt1
|
UTSW |
10 |
4,382,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7640:Armt1
|
UTSW |
10 |
4,403,572 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7715:Armt1
|
UTSW |
10 |
4,400,751 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8877:Armt1
|
UTSW |
10 |
4,400,864 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8968:Armt1
|
UTSW |
10 |
4,404,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8973:Armt1
|
UTSW |
10 |
4,389,550 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9096:Armt1
|
UTSW |
10 |
4,384,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9404:Armt1
|
UTSW |
10 |
4,400,848 (GRCm39) |
frame shift |
probably null |
|
|
R9405:Armt1
|
UTSW |
10 |
4,400,848 (GRCm39) |
frame shift |
probably null |
|
|
R9408:Armt1
|
UTSW |
10 |
4,400,848 (GRCm39) |
frame shift |
probably null |
|
|
R9563:Armt1
|
UTSW |
10 |
4,400,848 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAATGTGCATACGTGTGTGC -3'
(R):5'- CATTCAGTCATTTGTGGAAATGTCC -3'
Sequencing Primer
(F):5'- ATACGTGTGTGCACCCAC -3'
(R):5'- AGGACAACTTTGGGGATTCC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation